Mutagenetix > Incidental Mutation

Incidental Mutation 'R0172:F830016B08Rik'

24299

Institutional Source

Beutler Lab

Gene Symbol

F830016B08Rik

Ensembl Gene

ENSMUSG00000090942

Gene Name

RIKEN cDNA F830016B08 gene

Synonyms

Ifgga4

MMRRC Submission

038444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0172 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

60426452-60436088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60433036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 40 (D40Y)

Ref Sequence

ENSEMBL: ENSMUSP00000131437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171297]

AlphaFold

G3UWE2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171297
AA Change: D40Y

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131437
Gene: ENSMUSG00000090942
AA Change: D40Y

Domain	Start	End	E-Value	Type
Pfam:IIGP	35	405	1.1e-131	PFAM
Pfam:ABC_tran	68	214	7.3e-7	PFAM
Pfam:MMR_HSR1	71	197	2.2e-10	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

82% (40/49)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,578 (GRCm39)	C488S	probably damaging	Het
Abca12	T	G	1: 71,318,561 (GRCm39)	D1814A	probably damaging	Het
Acp7	T	C	7: 28,314,549 (GRCm39)	N272S	possibly damaging	Het
Ank3	T	C	10: 69,811,888 (GRCm39)	V1145A	probably damaging	Het
Ap1m2	A	T	9: 21,209,628 (GRCm39)		probably null	Het
Atp12a	T	C	14: 56,610,301 (GRCm39)	V224A	probably damaging	Het
Cdh23	T	C	10: 60,155,411 (GRCm39)	E2253G	probably damaging	Het
Cep350	T	C	1: 155,829,193 (GRCm39)	N237S	probably benign	Het
Crispld2	T	C	8: 120,752,810 (GRCm39)	V286A	possibly damaging	Het
Cyp2c65	G	T	19: 39,076,100 (GRCm39)	V351L	possibly damaging	Het
D130043K22Rik	T	C	13: 25,056,389 (GRCm39)	F574L	probably benign	Het
Dag1	G	A	9: 108,086,031 (GRCm39)	T370M	possibly damaging	Het
Dmwd	C	T	7: 18,814,267 (GRCm39)	R306C	probably damaging	Het
Dnah11	T	C	12: 117,951,188 (GRCm39)	Y3040C	probably damaging	Het
Dst	C	A	1: 34,309,935 (GRCm39)	H1536Q	probably damaging	Het
Eif3j1	A	G	2: 121,882,246 (GRCm39)	I202V	probably benign	Het
Epg5	T	A	18: 78,070,574 (GRCm39)	V2283D	probably benign	Het
Evi5	T	C	5: 107,938,328 (GRCm39)	N625S	probably benign	Het
Exosc10	T	C	4: 148,649,814 (GRCm39)	S415P	probably benign	Het
Fam118a	A	G	15: 84,929,951 (GRCm39)	I60V	probably benign	Het
Fam186a	A	T	15: 99,852,768 (GRCm39)	M150K	unknown	Het
Fam193a	C	T	5: 34,622,957 (GRCm39)	R1182W	probably damaging	Het
Fastkd2	T	A	1: 63,771,187 (GRCm39)	I181K	possibly damaging	Het
Hip1r	T	A	5: 124,135,003 (GRCm39)	Y380N	possibly damaging	Het
Hivep2	C	A	10: 14,015,218 (GRCm39)	P1795Q	probably damaging	Het
Hnrnpab	T	C	11: 51,493,494 (GRCm39)	E238G	probably damaging	Het
Kcnma1	C	T	14: 23,853,234 (GRCm39)	A172T	probably damaging	Het
Lipg	G	T	18: 75,081,245 (GRCm39)	H279N	possibly damaging	Het
Lrrc9	A	G	12: 72,510,260 (GRCm39)	D453G	possibly damaging	Het
Map1s	T	A	8: 71,367,612 (GRCm39)	M839K	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myo1h	T	A	5: 114,467,225 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nrn1	T	C	13: 36,914,544 (GRCm39)	R19G	probably benign	Het
Nwd2	T	C	5: 63,963,712 (GRCm39)	Y1099H	probably benign	Het
Nxpe2	G	A	9: 48,231,209 (GRCm39)	R387C	possibly damaging	Het
Or2a25	T	C	6: 42,888,913 (GRCm39)	V152A	probably benign	Het
Pappa2	C	T	1: 158,682,419 (GRCm39)		probably null	Het
Pcdhb13	A	T	18: 37,575,990 (GRCm39)	I123L	probably benign	Het
Plcg2	A	G	8: 118,306,521 (GRCm39)	T292A	probably benign	Het
Pnpla8	T	A	12: 44,358,111 (GRCm39)	V469D	probably damaging	Het
Pop4	T	C	7: 37,962,679 (GRCm39)	Y195C	probably damaging	Het
Rbsn	A	T	6: 92,188,588 (GRCm39)	D42E	probably damaging	Het
Sclt1	A	T	3: 41,672,222 (GRCm39)	I123N	possibly damaging	Het
Slc22a27	C	A	19: 7,843,201 (GRCm39)	G393*	probably null	Het
Smu1	C	T	4: 40,738,439 (GRCm39)	V432I	probably benign	Het
Sohlh1	A	G	2: 25,736,215 (GRCm39)		probably null	Het
Spta1	T	A	1: 174,058,352 (GRCm39)	I1940K	probably damaging	Het
Sufu	G	T	19: 46,385,563 (GRCm39)	V8F	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem184b	A	G	15: 79,262,740 (GRCm39)	V39A	possibly damaging	Het
Tmem236	A	G	2: 14,223,694 (GRCm39)	D161G	probably benign	Het
Ufl1	T	C	4: 25,280,685 (GRCm39)	K54R	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het

Other mutations in F830016B08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:F830016B08Rik	APN	18	60,433,340 (GRCm39)	missense	probably damaging	1.00
IGL02642:F830016B08Rik	APN	18	60,433,058 (GRCm39)	missense	probably benign	0.00
FR4342:F830016B08Rik	UTSW	18	60,433,013 (GRCm39)	small insertion	probably benign
R0375:F830016B08Rik	UTSW	18	60,433,265 (GRCm39)	missense	probably damaging	1.00
R1517:F830016B08Rik	UTSW	18	60,433,970 (GRCm39)	nonsense	probably null
R1791:F830016B08Rik	UTSW	18	60,433,589 (GRCm39)	missense	probably benign	0.01
R2413:F830016B08Rik	UTSW	18	60,433,365 (GRCm39)	nonsense	probably null
R2696:F830016B08Rik	UTSW	18	60,433,808 (GRCm39)	missense	possibly damaging	0.75
R3607:F830016B08Rik	UTSW	18	60,433,780 (GRCm39)	nonsense	probably null
R4612:F830016B08Rik	UTSW	18	60,434,087 (GRCm39)	missense	probably benign	0.42
R4621:F830016B08Rik	UTSW	18	60,433,939 (GRCm39)	missense	probably benign	0.01
R4752:F830016B08Rik	UTSW	18	60,434,153 (GRCm39)	missense	probably benign	0.00
R5755:F830016B08Rik	UTSW	18	60,433,878 (GRCm39)	missense	probably damaging	1.00
R5909:F830016B08Rik	UTSW	18	60,433,091 (GRCm39)	missense	probably damaging	1.00
R6183:F830016B08Rik	UTSW	18	60,432,949 (GRCm39)	missense	probably benign	0.00
R6272:F830016B08Rik	UTSW	18	60,433,150 (GRCm39)	missense	probably damaging	1.00
R7076:F830016B08Rik	UTSW	18	60,433,543 (GRCm39)	missense	probably damaging	1.00
R8130:F830016B08Rik	UTSW	18	60,433,052 (GRCm39)	missense	probably benign	0.00
R8171:F830016B08Rik	UTSW	18	60,433,150 (GRCm39)	missense	possibly damaging	0.94
R8289:F830016B08Rik	UTSW	18	60,433,360 (GRCm39)	missense	probably benign	0.45
R9034:F830016B08Rik	UTSW	18	60,433,141 (GRCm39)	missense	probably damaging	0.96
R9600:F830016B08Rik	UTSW	18	60,433,237 (GRCm39)	missense	probably damaging	0.99
R9614:F830016B08Rik	UTSW	18	60,433,379 (GRCm39)	missense	probably damaging	1.00
R9633:F830016B08Rik	UTSW	18	60,432,965 (GRCm39)	missense	probably damaging	0.99
R9638:F830016B08Rik	UTSW	18	60,432,956 (GRCm39)	missense	probably benign	0.00
R9684:F830016B08Rik	UTSW	18	60,433,043 (GRCm39)	missense	probably damaging	0.97
R9729:F830016B08Rik	UTSW	18	60,433,558 (GRCm39)	missense	possibly damaging	0.88
RF044:F830016B08Rik	UTSW	18	60,433,010 (GRCm39)	small insertion	probably benign
RF054:F830016B08Rik	UTSW	18	60,433,010 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CAACACAGACAGACATGGGGATTACTC -3'
(R):5'- AGGCAAGTCCCATAAGGTCAATGTTTC -3'

Sequencing Primer
(F):5'- gacagaCATGGGGATTACTCAATAAG -3'
(R):5'- TGTAAGAAGTTCTCTTCATAGTTGTC -3'

Posted On

2013-04-16